A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5198174



Internal ID8289909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:848204..849273hg38UCSC Ensembl
Outerchr9:848204..849273hg19UCSC Ensembl
Outerchr9:838204..839273hg18UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg38273
hg19273
hg18273
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2570062
Supporting Variants
SamplesNA18507
Known GenesDMRT1
MethodSequencing
AnalysisLarger insertions and deletions are found by looking at variation in mate pair distances in the 2x50 mate pair libraries. These data are included in separate files for each of three coverage values: 2.2x, 4.0x, 5.6x, and 8.4x
PlatformNot specified
CommentsoriginalFile=Yoruban_large_indels_8.4x.gff
ReferenceMcKernan_et_al_2009
Pubmed ID19546169
Accession Number(s)essv5198174
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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